2- (4-Hydroxy-3-nitro-benzenesulfonylamino) benzoic acid - ClinVar - NCBI

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The following terms were not found in ClinVar: nitro, benzenesulfonylamino, benzoic.
Showing results for 2-(4-Hydroxy-3-nitro-benzenesulfonylamino)-benzoic acid. Search instead for 2-(4-Hydroxy-3-nitro-benzenesulfonylamino)-benzoic acid (0)

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195033	NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)	HMGCL (E37*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 876143	NM_000198.4(HSD3B2):c.-106T>C	HSD3B2, LOC109029530	Single nucleotide variant (5 prime UTR variant +1 more)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 292255	NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)	HSD3B2, LOC109029530 (C5S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 720898	NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn)	HSD3B2 (D74N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 292256	NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1070043	NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr)	HSD3B2 (A82T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2328204	NM_000198.4(HSD3B2):c.274C>G (p.His92Asp)	HSD3B2 (H92D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1694521	NM_000198.4(HSD3B2):c.280G>C (p.Glu94Gln)	HSD3B2 (E94Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2491199	NM_000198.4(HSD3B2):c.287T>C (p.Ile96Thr)	HSD3B2 (I96T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 876144	NM_000198.4(HSD3B2):c.308-14C>A	HSD3B2	Single nucleotide variant (intron variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 736354	NM_000198.4(HSD3B2):c.308-9C>T	HSD3B2	Single nucleotide variant (intron variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 292257	NM_000198.4(HSD3B2):c.308-8G>A	HSD3B2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3336482	NM_000198.4(HSD3B2):c.320T>A (p.Leu107Gln)	HSD3B2 (L107Q)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GLikely pathogenic
Select item 292258	NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp)	HSD3B2 (C111W)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 971607	NM_000198.4(HSD3B2):c.385G>A (p.Gly129Arg)	HSD3B2 (G129R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3107174	NM_000198.4(HSD3B2):c.418G>A (p.Gly140Ser)	HSD3B2 (G140S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107175	NM_000198.4(HSD3B2):c.419G>T (p.Gly140Val)	HSD3B2 (G140V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 292259	NM_000198.4(HSD3B2):c.423C>T (p.His141=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 12190	NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys)	HSD3B2 (E142K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3284882	NM_000198.4(HSD3B2):c.437T>G (p.Leu146Arg)	HSD3B2 (L146R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715626	NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2594192	NM_000198.4(HSD3B2):c.466T>C (p.Tyr156His)	HSD3B2 (Y156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585542	NM_000198.4(HSD3B2):c.471C>G (p.Ser157Arg)	HSD3B2 (S157R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 724290	NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)	HSD3B2 (A167V)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 292260	NM_000198.4(HSD3B2):c.501G>A (p.Ala167=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 292261	NM_000198.4(HSD3B2):c.510G>C (p.Gly170=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12184	NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter)	HSD3B2 (W171*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 944811	NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)	HSD3B2 (L173R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2315623	NM_000198.4(HSD3B2):c.521A>C (p.Lys174Thr)	HSD3B2 (K174T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12185	NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)	HSD3B2 (T187fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3284880	NM_000198.4(HSD3B2):c.595G>T (p.Ala199Ser)	HSD3B2 (A199S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878508	NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)	HSD3B2 (A204D)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 292262	NM_000198.4(HSD3B2):c.621C>T (p.Asn207=)	HSD3B2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292263	NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg)	HSD3B2 (G209R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 2445883	NM_000198.4(HSD3B2):c.638G>C (p.Ser213Thr)	HSD3B2 (S213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 874297	NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala)	HSD3B2 (V220A)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 12191	NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr)	HSD3B2 (P222T)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia +1 more	GPathogenic
Select item 36370	NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser)	HSD3B2 (L236S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2577239	NM_000198.4(HSD3B2):c.733G>C (p.Ala245Pro)	HSD3B2 (A245P)	Single nucleotide variant (missense variant)	Congenital adrenal hyperplasia	GPathogenic
Select item 12187	NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter)	HSD3B2 (R249*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 292264	NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 12192	NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met)	HSD3B2 (T259M)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 292266	NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg)	HSD3B2 (S263R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 874298	NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)	HSD3B2 (I270T)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GUncertain significance
Select item 586031	NM_000198.4(HSD3B2):c.818_819del (p.Lys273fs)	HSD3B2 (K273fs)	Deletion (frameshift variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +2 more	GPathogenic
Select item 12193	NM_000198.4(HSD3B2):c.867del (p.Met290fs)	HSD3B2 (M290fs)	Deletion (frameshift variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic
Select item 2526859	NM_000198.4(HSD3B2):c.903C>A (p.Ser301Arg)	HSD3B2 (S301R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3107177	NM_000198.4(HSD3B2):c.911T>A (p.Leu304His)	HSD3B2 (L304H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 937691	NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter)	HSD3B2 (Q311*)	Single nucleotide variant (nonsense)	Congenital adrenal hyperplasia +2 more	GPathogenic/Likely pathogenic
Select item 726142	NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2254261	NM_000198.4(HSD3B2):c.986C>T (p.Ser329Phe)	HSD3B2 (S329F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 956384	NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter)	HSD3B2 (Q334*)	Single nucleotide variant (nonsense)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 597649	NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter)	HSD3B2 (R335*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 874299	NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr)	HSD3B2 (A338T)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 3284881	NM_000198.4(HSD3B2):c.1025T>G (p.Leu342Arg)	HSD3B2 (L342R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340729	NM_000198.4(HSD3B2):c.1055C>A (p.Thr352Asn)	HSD3B2 (T352N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 292267	NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)	HSD3B2	Single nucleotide variant (synonymous variant)	3 beta-Hydroxysteroid dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 12189	NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys)	HSD3B2	Single nucleotide variant (stop lost)	3 beta-Hydroxysteroid dehydrogenase deficiency	GPathogenic
Select item 292269	NM_000198.4(HSD3B2):c.*46C>T	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 292271	NM_000198.4(HSD3B2):c.*121C>A	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 292272	NM_000198.4(HSD3B2):c.*177C>T	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 292276	NM_000198.4(HSD3B2):c.*397T>A	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 876191	NM_000198.4(HSD3B2):c.*411T>C	HSD3B2	Single nucleotide variant (3 prime UTR variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 3284874	NM_000862.3(HSD3B1):c.377T>C (p.Ile126Thr)	HSD3B1 (I126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284876	NM_000862.3(HSD3B1):c.382G>A (p.Val128Ile)	HSD3B1 (V128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107167	NM_000862.3(HSD3B1):c.388G>A (p.Gly130Arg)	HSD3B1 (G130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399922	NM_000862.3(HSD3B1):c.436C>T (p.Pro146Ser)	HSD3B1 (P146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594344	NM_000862.3(HSD3B1):c.503C>T (p.Ala168Val)	HSD3B1 (A168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323151	NM_000862.3(HSD3B1):c.529G>A (p.Gly177Ser)	HSD3B1 (G177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284872	NM_000862.3(HSD3B1):c.532G>A (p.Gly178Ser)	HSD3B1 (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320349	NM_000862.3(HSD3B1):c.665A>G (p.Asn222Ser)	HSD3B1 (N222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342699	NM_000862.3(HSD3B1):c.674A>G (p.Tyr225Cys)	HSD3B1 (Y225C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245071	NM_000862.3(HSD3B1):c.719T>A (p.Leu240Gln)	HSD3B1 (L240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383832	NM_000862.3(HSD3B1):c.736G>T (p.Ala246Ser)	HSD3B1 (A246S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599024	NM_000862.3(HSD3B1):c.737C>T (p.Ala246Val)	HSD3B1 (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275076	NM_000862.3(HSD3B1):c.742A>G (p.Ser248Gly)	HSD3B1 (S248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481191	NM_000862.3(HSD3B1):c.784C>T (p.His262Tyr)	HSD3B1 (H262Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284875	NM_000862.3(HSD3B1):c.791G>A (p.Ser264Asn)	HSD3B1 (S264N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255959	NM_000862.3(HSD3B1):c.822A>C (p.Lys274Asn)	HSD3B1 (K274N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228547	NM_000862.3(HSD3B1):c.829G>T (p.Gly277Cys)	HSD3B1 (G277C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537371	NM_000862.3(HSD3B1):c.854G>A (p.Ser285Asn)	HSD3B1 (S285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611938	NM_000862.3(HSD3B1):c.855C>A (p.Ser285Arg)	HSD3B1 (S285R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313620	NM_000862.3(HSD3B1):c.949C>A (p.Arg317Ser)	HSD3B1 (R317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232897	NM_000862.3(HSD3B1):c.1040A>G (p.Glu347Gly)	HSD3B1 (E347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107163	NM_000862.3(HSD3B1):c.1043A>G (p.Glu348Gly)	HSD3B1 (E348G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284873	NM_000862.3(HSD3B1):c.1087C>T (p.Arg363Trp)	HSD3B1 (R363W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107164	NM_000862.3(HSD3B1):c.1113G>T (p.Lys371Asn)	HSD3B1 (K371N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 875432	NM_005518.4(HMGCS2):c.*822G>A	HMGCS2	Single nucleotide variant (3 prime UTR variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GBenign
Select item 875433	NM_005518.4(HMGCS2):c.*792G>A	HMGCS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 875434	NM_005518.4(HMGCS2):c.*765G>A	HMGCS2	Single nucleotide variant (3 prime UTR variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 876456	NM_005518.4(HMGCS2):c.*155C>T	HMGCS2	Single nucleotide variant (3 prime UTR variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 876457	NM_005518.4(HMGCS2):c.*139C>A	HMGCS2	Single nucleotide variant (3 prime UTR variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 876458	NM_005518.4(HMGCS2):c.*12A>C	HMGCS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 2186499	NM_005518.4(HMGCS2):c.1514G>A (p.Arg505Gln)	HMGCS2 (R463Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 292328	NM_005518.4(HMGCS2):c.1513C>T (p.Arg505Trp)	HMGCS2 (R463W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 452101	NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro)	HMGCS2 (R459P +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic/Likely pathogenic
Select item 9260	NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His)	HMGCS2 (R500H +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic/Likely pathogenic
Select item 2911808	NM_005518.4(HMGCS2):c.1498C>T (p.Arg500Cys)	HMGCS2 (R500C +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 3367072	NM_005518.4(HMGCS2):c.1481G>A (p.Arg494Gln)	HMGCS2 (R452Q +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance
Select item 1444750	NM_005518.4(HMGCS2):c.1405C>G (p.Gln469Glu)	HMGCS2 (Q427E +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GUncertain significance

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